Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177075T= , CM000678.2:g.177075T= | GRCh38 |
| NC_000016.9:g.227074T= , CM000678.1:g.227074T= | GRCh37 |
| NC_000016.8:g.167074T= | NCBI36 |
| NG_000006.1:g.37938T= | |
| NG_059186.1:g.5425T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.242T= MANE Select | ENSP00000322421.5:p.Leu81= | |
| ENST00000397797.1:c.146T= | ENSP00000380899.1:p.Leu49= | |
| ENST00000472694.1:n.378T= | ||
| ENST00000487791.1:n.211T= | ||
| NM_000558.4:c.242T= | NP_000549.1:p.Leu81= | |
| NM_000558.5:c.242T= MANE Select | NP_000549.1:p.Leu81= |